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目的:探讨内皮一氧化氮合酶基因内含子4(eNOS4)多态性与高脂血症的关系。方法:取患者血清,用电化学发光法、钟点法测定血糖、空腹胰岛素(FINS)、糖化血红蛋白(HbA1C)、总胆固醇(TC)、甘油三脂(TG)。从患者全血中提取DNA,进行多聚酶链反应(PCR),对PCR产物行6%聚丙烯酰胺凝胶电泳;部分PCR产物被克隆进载体,选阳性集落,进行核酸测序。结果:对照组eNOS4只有2种等位基因(a和b),而糖尿病患者有3种等位基因(a、b和c),对第3种多态(等位基因c)进行了序列分析,其基因序列较等位基因b多27bp,即:GAAGTCTAGACCTGCTGCGGGGGTGAG。患者组等位基因a携带者血清TG及TC显著增高。结论:糖尿病患者eNOS4上的多态性有3种等位基因即:a、b和c;等位基因a与高脂血症,特别是高TG血症显著相关。
Objective: To investigate the relationship between intron 4 (eNOS4) polymorphism of endothelial nitric oxide synthase gene and hyperlipidemia. Methods: Blood serum, fasting insulin (FINS), glycosylated hemoglobin (HbA1C), total cholesterol (TC) and triglyceride (TG) were determined by electrochemiluminescence and hourly counting method. DNA was extracted from the patient’s whole blood and subjected to polymerase chain reaction (PCR). The PCR product was subjected to 6% polyacrylamide gel electrophoresis. Part of the PCR product was cloned into a vector and positive colonies were selected for nucleic acid sequencing. RESULTS: There were only two alleles (a and b) of eNOS4 in the control group and three alleles (a, b and c) in patients with diabetes, and the third polymorphism (allele c) was sequenced , Its gene sequence more than the allele b 27bp, namely: GAAGTCTAGACCTGCTGCGGGGGTGAG. Patients with allele a carrier serum TG and TC were significantly higher. CONCLUSIONS: Polymorphisms on eNOS4 in patients with diabetes mellitus have three alleles ie a, b and c; allele a is significantly associated with hyperlipidemia, especially hypertriglyceridemia.